1. Gene
  2. REPS2 - RALBP1 associated Eps domain containing 2 Gene

REPS2 - RALBP1 associated Eps domain containing 2 Gene

中文名称:含 RALBP1 关联的 Eps 域 2

种属: Homo sapiens

同用名: POB1

基因 ID: 9185 | 基因类型: protein coding

关于 REPS2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:16,946,658-17,196,655 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues and 10 paralogues. Broad expression in brain (RPKM 10.4), adrenal (RPKM 6.0) and 23 other tissues.

功能概要

该基因的产物是调节生长因子受体内吞作用的蛋白质复合物的一部分。编码的蛋白质直接与在小 G 蛋白 Ral 下游发挥作用的 GTP 酶激活蛋白相互作用。它的表达会对受体内化产生负面影响并抑制生长因子信号传导。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

REPS2 基因产物(2)

mRNA Protein Name
NM_001080975.2 NP_001074444.1 ralBP1-associated Eps domain-containing protein 2 isoform 2
NM_004726.3 NP_004717.2 ralBP1-associated Eps domain-containing protein 2 isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9422736 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

REPS2 蛋白结构

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (278 - 366)

  • 0
  • 200
  • 400
  • 600
  • 660 a.a.
蛋白主名 其他名称

ralBP1-associated Eps domain-containing protein 2

RALBP1-interacting protein 2

REPS2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
REPS2 Q8NFH8 GRB2 Homo sapiens P62993
Peptide Array
18647389
种属间
REPS2 Q8NFH8 Eps15 Mus musculus P42567
Pull Down
18154663
种属间
REPS2 Q8NFH8 Eps15 Mus musculus P42567
Peptide Array
18154663
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus REPS2 VGNC VGNC:69289
Macaca mulatta REPS2 VGNC VGNC:76896
Canis familiaris REPS2 VGNC VGNC:45475
Rattus norvegicus REPS2 RGD RGD:1561642
Bos taurus REPS2 VGNC VGNC:33870
Mus musculus REPS2 MGD MGI:2663511